Cerebellar Volume in Tuberous Sclerosis Complex

01 Mar 2013filed under: science, imaging

I’m pleased to write that my last paper at Harvard Medical School
is in press in the Journal of Pediatrics. In the course of
working on Heidi Als’s studies of ex-preterm adolescents, it became
clear that pure template-fusion segmentation algorithms could go
horribly awry in the face of missing or atrophied structures, but
that a hybrid template-fusion/intensity segmentation algorithm,
such as my own, could do nicely. Simultaneously, we were
working with Mustafa Sahin’s tuberous sclerosis patients
and I noticed occasional cerebellar atrophy.

Putting two and two together, with a good deal of help from Jurriaan
Peters, Peter Tsai, and genotype data supplied by Kira Dies, we
noticed a reduction in cerebellar volume in the subgroup of patients
whose tuberous sclerosis was explained by a known pathogenic mutation
in TSC2. The finding was short and straightforward, but the paper
reviews some evidence from the literature that indicate, roughly, why this
might have occurred and, I believe, link these together for the first time.